{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:26:56Z","timestamp":1790771216249,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,26]],"date-time":"2021-03-26T00:00:00Z","timestamp":1616716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK99551"],"award-info":[{"award-number":["R01DK99551"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32 GM008638"],"award-info":[{"award-number":["T32 GM008638"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54 NS115198"],"award-info":[{"award-number":["U54 NS115198"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004752","name":"State Government of Victoria","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004752","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003921","name":"Department of Health, Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>ALG13<\/jats:italic>\n                    (\n                    <jats:italic>ALG13 UDP\u2010N\u2010acetylglucosaminyltransferase subunit<\/jats:italic>\n                    ) cause an X\u2010linked congenital disorder of glycosylation (ALG13\u2010CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual disability, infantile spasms, and epileptic encephalopathy. Girls with a recurrent de novo c.3013C&gt;T; p.(Asn107Ser) variant have normal transferrin glycosylation. Using a highly sensitive, semi\u2010quantitative flow injection\u2010electrospray ionization\u2010quadrupole time\u2010of\u2010flight mass spectrometry (ESI\u2010QTOF\/MS) N\u2010glycan assay, we report subtle abnormalities in N\u2010glycans that normally account for &lt;0.3% of the total plasma glycans that may increase up to 0.5% in females with the p.(Asn107Ser) variant. Among our 11 unrelated ALG13\u2010CDG individuals, one male had abnormal serum transferrin glycosylation. We describe seven previously unreported subjects including three novel variants in\n                    <jats:italic>ALG13<\/jats:italic>\n                    and report a milder neurodevelopmental course. We also summarize the molecular, biochemical, and clinical data for the 53 previously reported ALG13\u2010CDG individuals. We provide evidence that\n                    <jats:italic>ALG13<\/jats:italic>\n                    pathogenic variants may mildly alter N\u2010linked protein glycosylation in both female and male subjects, but the underlying mechanism remains unclear.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12378","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T06:02:39Z","timestamp":1616047359000},"page":"1001-1012","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["<i>ALG13<\/i>\n                    X\u2010linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6433-0311","authenticated-orcid":false,"given":"Hind","family":"Alsharhan","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Faculty of Medicine Kuwait University  Kuwait City Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Edmondson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Earnest J. P.","family":"Daniel","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyhiesia","family":"Donald","sequence":"additional","affiliation":[{"name":"Pediatrics Ward, Grenada General Hospital  St. George's Grenada"},{"name":"Clinical Teaching Unit, St. George's University  St. George's Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayeh","family":"Bakhtiari","sequence":"additional","affiliation":[{"name":"Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital  Phoenix Arizona USA"},{"name":"Departments of Child Health, Neurology, Cellular &amp; Molecular Medicine and Program in Genetics University of Arizona College of Medicine  Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics University of Melbourne  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Jones","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine Saint Mary's Hospital, Manchester University NHS Foundation Trust  Manchester UK"},{"name":"Division of Evolution and Genomic Sciences School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre  Manchester 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H.","family":"Werners","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Physiology and Pharmacology St. George University School of Veterinary Medicine  St. George's Grenada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng C.","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pediatrics Washington University  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale Center for Genome Analysis, Yale School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Brain and Mitochondrial Research Group Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne  Melbourne 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